Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6433cc104d4af82a6f613436ae02af40> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B6433cc104d4af82a6f613436ae02af40 hasDbXref "https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence" @default.
- B6433cc104d4af82a6f613436ae02af40 type Axiom @default.
- B6433cc104d4af82a6f613436ae02af40 annotatedProperty IAO_0000115 @default.
- B6433cc104d4af82a6f613436ae02af40 annotatedSource MONDO_0008824 @default.
- B6433cc104d4af82a6f613436ae02af40 annotatedTarget "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes." @default.